ClinVar Miner

Submissions for variant NM_003924.3(PHOX2B):c.385G>A (p.Glu129Lys) (rs1560466246)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680064 SCV000807504 uncertain significance Congenital central hypoventilation 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 4-month-old female with hypotonia, failure to thrive, respiratory distress, pulmonary hypertension, imperforate anus, Hirschsprung disease

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